MinION Analysis and Reference Consortium: Phase 1 data release and analysis.

Abstract The advent of a miniaturized DNA sequencing device with a high-throughput contextual sequencing capability embodies the next generation of large scale sequencing tools. The MinION™ Access Programme (MAP) was initiated by Oxford Nanopore Technologies™ in April 2014, giving public access to their USB-attached miniature …

The NIH BD2K center for big data in translational genomics

Abstract The world’s genomics data will never be stored in a single repository – rather, it will be distributed among many sites in many countries. No one site will have enough data to explain genotype to phenotype relationships in rare diseases; therefore, sites must share …

Coiled green tree snake

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

Background The process of generating raw genome sequence data continues to become cheaper, faster, and more accurate. However, assembly of such data into high-quality, finished genome sequences remains challenging. Many genome assembly tools are available, but they differ greatly in terms of their performance (speed, …

Two horizontally stacked fuzzy double helixs

Sequence progressive alignment, a framework for practical large-scale probabilistic consistency alignment

Motivation: Multiple sequence alignment is a cornerstone of comparative genomics. Much work has been done to improve methods for this task, particularly for the alignment of small sequences, and especially for amino acid sequences. However, less work has been done in making promising methods that …

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ENCODE Project Consortium, et al. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

We report the generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project. These data have been further integrated and augmented by a number of evolutionary …